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Article

Functional analysis of telomere maintenance mechanisms is more informative than immunohistochemistry for ATRX mutation interpretation in Gliomas.

Acta neuropathologica communications - 20 Dec 2025

Guerriau Clemence, Léonce Camille, Carpentier Catherine, Mokhtari Karima, Bielle Franck, Dridi-Aloulou Amel, Lomonte Patrick, Meyronet David, Sanson Marc, Castro-Vega Luis, Poncet Delphine Aude

Abstract excerpt

Loss of ATRX function, a diagnostic criterion of IDH-mutant astrocytoma, is closely associated with alternative lengthening of telomeres (ALT), a telomere maintenance mechanism (TMM). As immunohistochemical (IHC) assessment of ATRX is error-prone, sequencing has been integrated into clinical workflows. While frameshift and nonsense variants can be classified as loss-of-function (LOF) mutations, missense variants...

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Identifiers

PMID: 41422096
DOI: 10.1186/s40478-025-02164-z
PMCID: PMC12831451

Genes

ATRX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Functional analysis of telomere maintenance mechanisms is more informative than immunohistochemistry for ATRX mutation interpretation in Gliomas.PMID 41422096Read ↗

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